Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
coding_transcript_intron_variant	SO_0001969	[A transcript variant occurring within an intron of a coding transcript.]
Myoclonus	HP_0001336	[Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.]
Involuntary movements	HP_0004305	[Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.]
5_prime_UTR_intron_variant	SO_0002091	[A UTR variant of intronic sequence of the 5' UTR.]
5_prime_UTR_variant	SO_0001623	[A UTR variant of the 5' UTR.]
intellectual disability	DOID_1059	[A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.]
5_prime_UTR_exon_variant	SO_0002092	[A UTR variant of exonic sequence of the 5' UTR.]
obsolete amino acid transport disease	DOID_1058
structural_interaction_variant	SO_0002093	[A variant that impacts the internal interactions of the resulting polypeptide structure.]
3D_polypeptide_structure_variant	SO_0001599	[A sequence variant that changes the resulting polypeptide structure.]
obsolete inborn amino acid transport disorder	DOID_1057
non_allelic_homologous_recombination_region	SO_0002094	[A genomic region at a non-allelic position where exchange of genetic material happens as a result of homologous recombination.]
recombination_hotspot	SO_0000339	[A region in a genome which promotes recombination.]
Neoplasm	HP_0002664	[An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).]
oculocerebrorenal syndrome	DOID_1056	[A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.]
scaRNA	SO_0002095	[A ncRNA, specific to the Cajal body, that has been demonstrated to function as a guide RNA in the site-specific synthesis of 2'-O-ribose-methylated nucleotides and pseudouridines in the RNA polymerase II-transcribed U1, U2, U4 and U5 spliceosomal small nuclear RNAs (snRNAs).]
Abnormality of body height	HP_0000002	[Deviation from the norm of height with respect to that which is expected according to age and gender norms.]
obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes	DOID_1055
short_tandem_repeat_variation	SO_0002096	[A variation that expands or contracts a tandem repeat with regard to a reference.]
obsolete glaucoma associated with chamber angle anomalies	DOID_1054